Mutagenetix > Incidental Mutation

Incidental Mutation 'R5955:Bhmt2'

471139

Institutional Source

Beutler Lab

Gene Symbol

Bhmt2

Ensembl Gene

ENSMUSG00000042118

Gene Name

betaine-homocysteine methyltransferase 2

Synonyms

C81077, D13Ucla2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R5955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93792605-93810810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93799705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 244 (T244A)

Ref Sequence

ENSEMBL: ENSMUSP00000015941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015941]

AlphaFold

Q91WS4

Predicted Effect

probably benign
Transcript: ENSMUST00000015941
AA Change: T244A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: T244A

Domain	Start	End	E-Value	Type
Pfam:S-methyl_trans	23	305	3.9e-44	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,801,629 (GRCm39)	D632V	probably damaging	Het
Acbd6	C	T	1: 155,463,205 (GRCm39)	A135V	probably benign	Het
Adam26a	A	T	8: 44,022,889 (GRCm39)	F200L	probably benign	Het
Ago3	A	T	4: 126,248,843 (GRCm39)	N569K	probably damaging	Het
Ak9	A	T	10: 41,234,560 (GRCm39)	L640F	probably damaging	Het
Ampd2	A	G	3: 107,987,088 (GRCm39)	V178A	probably damaging	Het
Anapc4	C	G	5: 53,023,288 (GRCm39)	H710D	probably benign	Het
Atad2	T	C	15: 57,969,055 (GRCm39)	I495V	probably benign	Het
Capg	T	C	6: 72,532,483 (GRCm39)	V16A	probably benign	Het
Capn13	A	G	17: 73,637,997 (GRCm39)	F469L	possibly damaging	Het
Ccdc149	C	T	5: 52,533,877 (GRCm39)	V430I	probably benign	Het
Cma1	A	C	14: 56,181,226 (GRCm39)	Y47D	probably benign	Het
Col6a3	A	T	1: 90,739,163 (GRCm39)	L355Q	probably damaging	Het
Cripto	C	A	9: 110,773,281 (GRCm39)	R18L	unknown	Het
Crocc	G	T	4: 140,745,229 (GRCm39)	T1796K	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,378,934 (GRCm39)	I1294T	possibly damaging	Het
Erbin	A	T	13: 103,966,700 (GRCm39)	F1250Y	probably benign	Het
Fbn1	A	C	2: 125,200,802 (GRCm39)	C1298W	probably damaging	Het
Fbn2	A	C	18: 58,177,328 (GRCm39)	F1990V	probably damaging	Het
Fez2	A	T	17: 78,694,472 (GRCm39)	V306D	probably damaging	Het
Gigyf1	G	A	5: 137,521,769 (GRCm39)		probably null	Het
Gjb4	A	T	4: 127,245,745 (GRCm39)	Y65*	probably null	Het
Gm26661	G	A	14: 7,791,776 (GRCm38)	A64T	unknown	Het
Igkv1-135	T	C	6: 67,587,263 (GRCm39)	S45P	possibly damaging	Het
Il27	T	C	7: 126,194,070 (GRCm39)	T5A	probably benign	Het
Il27ra	T	C	8: 84,767,451 (GRCm39)	D124G	probably benign	Het
Itgad	A	G	7: 127,788,653 (GRCm39)	H424R	probably benign	Het
Itgal	T	C	7: 126,904,161 (GRCm39)	V258A	possibly damaging	Het
Kpna4	A	G	3: 68,997,134 (GRCm39)	V351A	probably benign	Het
Lama5	T	C	2: 179,839,267 (GRCm39)	Q747R	probably damaging	Het
Map4k5	A	G	12: 69,891,164 (GRCm39)	F168L	probably damaging	Het
Mecom	A	G	3: 30,015,195 (GRCm39)	Y843H	probably damaging	Het
Mical3	T	C	6: 121,010,711 (GRCm39)	M424V	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Myb	A	G	10: 21,028,398 (GRCm39)	I155T	probably damaging	Het
Nbea	A	T	3: 55,588,404 (GRCm39)	V2445E	probably benign	Het
Nlrp1b	A	T	11: 71,108,691 (GRCm39)	I270N	probably damaging	Het
Nlrp4f	A	T	13: 65,342,895 (GRCm39)	M250K	probably benign	Het
Or13c7	T	A	4: 43,854,898 (GRCm39)	N196K	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or52w1	C	T	7: 105,017,776 (GRCm39)	A72V	probably damaging	Het
P4ha1	A	G	10: 59,178,618 (GRCm39)	S96G	probably benign	Het
Pcnt	G	T	10: 76,247,456 (GRCm39)	N1025K	possibly damaging	Het
Pgap4	T	C	4: 49,586,613 (GRCm39)	E185G	probably damaging	Het
Phactr4	A	G	4: 132,114,220 (GRCm39)	F58S	probably damaging	Het
Phlpp1	T	A	1: 106,291,960 (GRCm39)		probably null	Het
Rab40c	A	C	17: 26,103,631 (GRCm39)	V144G	probably damaging	Het
Rnasel	A	G	1: 153,630,146 (GRCm39)	I221V	probably benign	Het
Rps6kb1	T	C	11: 86,404,431 (GRCm39)	K241E	probably damaging	Het
Rrbp1	C	G	2: 143,791,597 (GRCm39)	E1370Q	probably benign	Het
Rttn	T	C	18: 89,139,133 (GRCm39)	Y2111H	probably damaging	Het
Samd8	A	G	14: 21,843,152 (GRCm39)	H364R	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Setdb1	A	G	3: 95,246,153 (GRCm39)	Y590H	probably damaging	Het
Shkbp1	T	C	7: 27,041,949 (GRCm39)	N635S	probably benign	Het
Trpm6	A	G	19: 18,869,383 (GRCm39)	D1990G	possibly damaging	Het
Usp48	A	G	4: 137,343,129 (GRCm39)	N426S	probably benign	Het
Vmn2r16	G	A	5: 109,511,613 (GRCm39)	V607M	possibly damaging	Het
Xdh	A	T	17: 74,205,315 (GRCm39)	V1050D	probably damaging	Het
Zfp110	C	T	7: 12,582,672 (GRCm39)	T440I	possibly damaging	Het

Other mutations in Bhmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Bhmt2	APN	13	93,803,279 (GRCm39)	splice site	probably benign
IGL01665:Bhmt2	APN	13	93,799,661 (GRCm39)	nonsense	probably null
IGL02059:Bhmt2	APN	13	93,803,171 (GRCm39)	missense	probably benign
IGL02239:Bhmt2	APN	13	93,799,687 (GRCm39)	missense	probably benign	0.00
IGL02267:Bhmt2	APN	13	93,805,854 (GRCm39)	missense	probably damaging	1.00
IGL03148:Bhmt2	APN	13	93,803,161 (GRCm39)	missense	possibly damaging	0.48
R1171:Bhmt2	UTSW	13	93,798,837 (GRCm39)	missense	probably benign	0.00
R1517:Bhmt2	UTSW	13	93,798,847 (GRCm39)	missense	probably damaging	0.97
R1886:Bhmt2	UTSW	13	93,798,998 (GRCm39)	missense	probably benign	0.02
R2167:Bhmt2	UTSW	13	93,799,012 (GRCm39)	missense	probably benign	0.29
R4024:Bhmt2	UTSW	13	93,799,839 (GRCm39)	splice site	probably benign
R4823:Bhmt2	UTSW	13	93,799,798 (GRCm39)	missense	probably benign
R5273:Bhmt2	UTSW	13	93,803,086 (GRCm39)	missense	possibly damaging	0.84
R5333:Bhmt2	UTSW	13	93,807,938 (GRCm39)	missense	probably benign	0.00
R5738:Bhmt2	UTSW	13	93,799,798 (GRCm39)	missense	probably benign
R6281:Bhmt2	UTSW	13	93,799,668 (GRCm39)	missense	probably damaging	1.00
R6858:Bhmt2	UTSW	13	93,807,948 (GRCm39)	missense	probably damaging	0.97
R6934:Bhmt2	UTSW	13	93,798,819 (GRCm39)	missense	probably benign	0.18
R6985:Bhmt2	UTSW	13	93,799,830 (GRCm39)	missense	possibly damaging	0.64
R7185:Bhmt2	UTSW	13	93,799,779 (GRCm39)	missense	probably benign	0.22
R7639:Bhmt2	UTSW	13	93,799,822 (GRCm39)	missense	probably damaging	1.00
R8412:Bhmt2	UTSW	13	93,798,820 (GRCm39)	missense	possibly damaging	0.49
R9224:Bhmt2	UTSW	13	93,805,854 (GRCm39)	missense	probably damaging	1.00
R9479:Bhmt2	UTSW	13	93,799,833 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCAGGTTCCTGACTGGTTG -3'
(R):5'- ACCGTAAGTTGCACTGGTTC -3'

Sequencing Primer
(F):5'- GCCAGAAAGATTATGCATTCTTTGGG -3'
(R):5'- CTTAATTGCCTTGCACAGGGGC -3'

Posted On

2017-03-31